| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
21 MO |
| Age at Diagnosis(If not a control) |
29 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Asiatic Indian |
| Country |
INDIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
GAMT, C.424_426DELGAG, P.GLU142DEL IN EXON 4; SHOWN BY FOCUSED EXOME SEQUENCING |
| Zygosity: |
Homozygous
Notes: VARIANT INHERITED FROM BOTH MOTHER AND FATHER |
| Other variants: |
KCNQ2, C.2323A>G (P.ARG775GLY), HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE, INHERITED FROM FATHER; MCM6, C.1366G>A (P.VAL456MET), HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE (RS191517067) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
21 MONTHS |
| Age at Diagnosis: |
29 MONTHS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Additional Information: |
PROMINENCE OF NASOPHARYNGEAL ADENOIDS INDENTS THE AIRWAY |
| Neurological Symptoms |
| |
Sleep abnormalities
|
| Additional Information: |
MRI SCAN REVEALED FOCAL BILATERALLY SYMMETRIC FOCI OF ALTERED SIGNAL & DIFFUSION RESTRICTION INVOLVING THE DORSAL PONS & MEDULLARY TEGMENTUM / CENTRAL TEGMENTAL TRACTS (MEDIAL LONGITUDINAL FASCICULUS); CEREBRAL DYSRHYTHMIA |
| Optical and Audiological Symptoms |
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| Additional Information: |
EYE BLINKING |
| Musculoskeletal Symptoms |
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| Developmental Milestones |
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Delayed speech and language development
Delayed fine motor skills
Delayed gross motor skills
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information: |
MULTIPLE EPISODES OF HEAD DROP (5-6 PER DAY) SINCE 1 MONTH; POOR UNDERSTANDING |
| Additional Information |
| Uncategorized Symptoms: |
LICKS; MAKES ABNORMAL SOUNDS |
| Testing Performed |
| Neurological Testing: |
MRI IMAGING; MR SPECTROSCOPY REVEALED SIGNIFICANT REDUCTION IN CREATININE LEVELS; EEG |
| Metabolic, Hematologic, and Endocrinologic Testing: |
AMINO ACID PLASMA UHPLC REVEALED NO SIGNIFICANT ABNORMALITY; GUANADINO COMPOUNDS IN PLASMA AND URINE REVEALED LOW LEVELS OF CREATINE AND ELEVATED GAA; URIC ACID SERUM; LFT-A; CALCIUM SERUM; CREATININE SERUM; UREA SERUM; ELECTROLYTES; CBP (COMPLETE BLOOD PICTURE) |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| |
SABRIL; TAURINE; CREATINE MONOHYDRATE; METANUTRITION; SODIUM BENZOATE; ORNITHINE; TETRAFOL PLUS; RIVOTRIL; LEVIPIL; NEOPEPTINE; A-Z VITAMIN; ULTRA D3; ASPIRITO; CEFIXIME (FOR STOMACH ILLNESS) |
| Family History |
| Remarks |
See Phenotypic Data tab. |